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rs397518041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518041(A;A)
Make rs397518041(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215845898
GeneUSH2A
is asnp
is mentioned by
dbSNPrs397518041
ebirs397518041
HLIrs397518041
Exacrs397518041
Varsomers397518041
Maprs397518041
PheGenIrs397518041
hapmaprs397518041
1000 genomesrs397518041
hgdprs397518041
ensemblrs397518041
gopubmedrs397518041
geneviewrs397518041
scholarrs397518041
googlers397518041
pharmgkbrs397518041
gwascentralrs397518041
openSNPrs397518041
23andMers397518041
23andMe allrs397518041
SNP Nexus

SNPshotrs397518041
SNPdbers397518041
MSV3drs397518041
GWAS Ctlgrs397518041
Max Magnitude0
ClinVar
Risk rs397518041(A;A)
Alt rs397518041(A;A)
Reference rs397518041(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216019240C>T
CLNSRC ClinVar
CLNACC RCV000041937.2,